Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Rnf220'

279613

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf220

Ensembl Gene

ENSMUSG00000028677

Gene Name

ring finger protein 220

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

117271463-117497052 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117273327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 234 (F234L)

Ref Sequence

ENSEMBL: ENSMUSP00000152367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030439] [ENSMUST00000062824] [ENSMUST00000094853] [ENSMUST00000102690] [ENSMUST00000106433] [ENSMUST00000106434] [ENSMUST00000125943] [ENSMUST00000221654]

AlphaFold

Q6PDX6

Predicted Effect

probably benign
Transcript: ENSMUST00000030439
AA Change: F492L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: F492L

Domain	Start	End	E-Value	Type
Pfam:RNF220	217	339	3.5e-38	PFAM
Pfam:RNF220	325	444	4.9e-51	PFAM
RING	514	552	1.62e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062824

SMART Domains

Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772

Domain	Start	End	E-Value	Type
Pfam:DUF829	34	270	4.1e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094853
AA Change: F279L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677
AA Change: F279L

Domain	Start	End	E-Value	Type
low complexity region	176	187	N/A	INTRINSIC
RING	301	339	1.62e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102690
AA Change: F171L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677
AA Change: F171L

Domain	Start	End	E-Value	Type
low complexity region	68	79	N/A	INTRINSIC
RING	193	231	1.62e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106433

SMART Domains

Protein: ENSMUSP00000102041
Gene: ENSMUSG00000048772

Domain	Start	End	E-Value	Type
Pfam:DUF829	19	255	3.4e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106434

SMART Domains

Protein: ENSMUSP00000102042
Gene: ENSMUSG00000048772

Domain	Start	End	E-Value	Type
Pfam:DUF829	41	277	1.3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125943

SMART Domains

Protein: ENSMUSP00000121458
Gene: ENSMUSG00000048772

Domain	Start	End	E-Value	Type
Pfam:DUF829	19	252	5.3e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128122

SMART Domains

Protein: ENSMUSP00000114642
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
low complexity region	94	105	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145836

Predicted Effect

probably benign
Transcript: ENSMUST00000151829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221157

Predicted Effect

probably benign
Transcript: ENSMUST00000221654
AA Change: F234L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223182

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Rnf220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Rnf220	APN	4	117307675	missense	probably benign	0.02
IGL01345:Rnf220	APN	4	117273270	nonsense	probably null
IGL02245:Rnf220	APN	4	117299537	splice site	probably benign
IGL02366:Rnf220	APN	4	117489783	missense	probably benign
IGL02725:Rnf220	APN	4	117272379	splice site	probably benign
IGL02801:Rnf220	APN	4	117273251	missense	probably damaging	1.00
IGL02963:Rnf220	APN	4	117490192	missense	probably damaging	0.97
BB007:Rnf220	UTSW	4	117307590	missense	probably damaging	0.99
BB017:Rnf220	UTSW	4	117307590	missense	probably damaging	0.99
PIT4131001:Rnf220	UTSW	4	117277369	critical splice donor site	probably null
R0041:Rnf220	UTSW	4	117273284	missense	probably damaging	1.00
R0784:Rnf220	UTSW	4	117277998	splice site	probably benign
R1107:Rnf220	UTSW	4	117285390	missense	probably damaging	1.00
R1122:Rnf220	UTSW	4	117278080	missense	probably benign	0.01
R1231:Rnf220	UTSW	4	117489884	missense	probably damaging	0.98
R1708:Rnf220	UTSW	4	117489886	missense	probably benign	0.00
R1794:Rnf220	UTSW	4	117307568	missense	probably benign
R4488:Rnf220	UTSW	4	117489814	missense	probably damaging	1.00
R4710:Rnf220	UTSW	4	117289214	unclassified	probably benign
R4790:Rnf220	UTSW	4	117289055	missense	probably benign	0.45
R4923:Rnf220	UTSW	4	117489600	missense	possibly damaging	0.71
R5173:Rnf220	UTSW	4	117289274	start gained	probably benign
R5334:Rnf220	UTSW	4	117272351	missense	probably damaging	1.00
R5505:Rnf220	UTSW	4	117296091	intron	probably benign
R5849:Rnf220	UTSW	4	117277612	missense	possibly damaging	0.92
R7075:Rnf220	UTSW	4	117285882	missense	probably benign	0.28
R7349:Rnf220	UTSW	4	117277818	missense	probably damaging	0.99
R7478:Rnf220	UTSW	4	117296136	missense	possibly damaging	0.94
R7541:Rnf220	UTSW	4	117489930	missense	probably damaging	1.00
R7930:Rnf220	UTSW	4	117307590	missense	probably damaging	0.99
R8030:Rnf220	UTSW	4	117277828	missense	probably damaging	1.00
R8202:Rnf220	UTSW	4	117489873	missense	probably damaging	1.00
R8701:Rnf220	UTSW	4	117489993	missense	probably damaging	0.99
R9268:Rnf220	UTSW	4	117489636	missense	probably benign	0.09
R9452:Rnf220	UTSW	4	117296142	missense	probably benign	0.08

Posted On

2015-04-16